Incidental Mutation 'IGL02006:Tbx10'
ID 183185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx10
Ensembl Gene ENSMUSG00000037477
Gene Name T-box 10
Synonyms Tbx13, Tbx7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # IGL02006
Quality Score
Status
Chromosome 19
Chromosomal Location 4042752-4049512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4048186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 237 (T237K)
Ref Sequence ENSEMBL: ENSMUSP00000037401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025802] [ENSMUST00000041871] [ENSMUST00000122924] [ENSMUST00000155405]
AlphaFold Q810F8
Predicted Effect probably benign
Transcript: ENSMUST00000025802
SMART Domains Protein: ENSMUSP00000025802
Gene: ENSMUSG00000110949

DomainStartEndE-ValueType
Pfam:NUDIX 26 160 2.8e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041871
AA Change: T237K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037401
Gene: ENSMUSG00000037477
AA Change: T237K

DomainStartEndE-ValueType
TBOX 64 257 9.2e-117 SMART
low complexity region 309 320 N/A INTRINSIC
low complexity region 331 351 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122924
SMART Domains Protein: ENSMUSP00000122531
Gene: ENSMUSG00000110949

DomainStartEndE-ValueType
Pfam:NUDIX 19 117 3.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155405
SMART Domains Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869

DomainStartEndE-ValueType
Pfam:NUDIX 29 159 8.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156285
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a gain of function mutation die perinatally with cleft lip and cleft palate; heterozygotes show penetrance and strain effects - they generally circle and head-toss, but are not deaf, lack the macula of utriculus and show defects of the labyrinths in the vestibular region. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted(5) Spontaneous(1)
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,117,582 (GRCm39) G182S probably damaging Het
Akr1b7 A T 6: 34,392,385 (GRCm39) N66I probably benign Het
Arrdc3 T A 13: 81,031,893 (GRCm39) I42N probably damaging Het
Atp6v0d2 G T 4: 19,878,325 (GRCm39) A316E probably damaging Het
Atp8a2 A G 14: 60,094,497 (GRCm39) V847A possibly damaging Het
Ccdc171 A G 4: 83,713,479 (GRCm39) N1173D possibly damaging Het
Crb2 A C 2: 37,676,475 (GRCm39) D152A probably damaging Het
Ecm1 T C 3: 95,641,557 (GRCm39) E559G probably damaging Het
Ephb1 A G 9: 102,071,971 (GRCm39) probably null Het
Fndc11 C A 2: 180,863,884 (GRCm39) R230S probably damaging Het
Frem1 A G 4: 82,911,037 (GRCm39) probably null Het
Fyco1 G A 9: 123,658,896 (GRCm39) Q427* probably null Het
Gm17541 A G 12: 4,739,619 (GRCm39) probably benign Het
Gm5431 C T 11: 48,779,330 (GRCm39) V809M probably damaging Het
Gm7293 A G 9: 51,534,043 (GRCm39) noncoding transcript Het
Ift52 T C 2: 162,865,289 (GRCm39) S47P probably benign Het
Iqcf6 A G 9: 106,504,510 (GRCm39) D58G probably benign Het
Itm2b T C 14: 73,600,488 (GRCm39) probably benign Het
Jakmip1 T C 5: 37,278,331 (GRCm39) I536T probably damaging Het
Kcnh1 T G 1: 191,873,323 (GRCm39) M3R possibly damaging Het
Kcnh5 G T 12: 74,944,322 (GRCm39) P976T probably damaging Het
Layn G A 9: 50,968,591 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,347,317 (GRCm39) Q3126L probably damaging Het
Meioc A T 11: 102,565,092 (GRCm39) D180V probably damaging Het
Myo15a T A 11: 60,401,954 (GRCm39) C3066S probably damaging Het
Nbeal1 T C 1: 60,311,418 (GRCm39) probably null Het
Negr1 T C 3: 156,721,810 (GRCm39) probably benign Het
Nek1 T A 8: 61,557,226 (GRCm39) N940K probably benign Het
Nfkbib A T 7: 28,465,667 (GRCm39) probably null Het
Nol4 T A 18: 23,054,975 (GRCm39) T152S probably damaging Het
Oas3 G T 5: 120,907,300 (GRCm39) R446S probably benign Het
Oosp3 C T 19: 11,676,784 (GRCm39) L48F probably damaging Het
Or2r3 A G 6: 42,449,025 (GRCm39) V29A probably benign Het
Or2w25 T C 11: 59,503,985 (GRCm39) L65P probably damaging Het
Pik3ap1 C A 19: 41,291,032 (GRCm39) W500L probably benign Het
Ppih A G 4: 119,168,779 (GRCm39) probably benign Het
Ro60 G T 1: 143,636,084 (GRCm39) probably benign Het
Slc7a15 T C 12: 8,585,508 (GRCm39) probably null Het
Srl T C 16: 4,315,150 (GRCm39) E164G probably benign Het
Vwa5b2 T C 16: 20,415,843 (GRCm39) V392A probably damaging Het
Wfdc5 A T 2: 164,024,483 (GRCm39) probably benign Het
Xirp2 T C 2: 67,342,306 (GRCm39) F1516L possibly damaging Het
Znfx1 A G 2: 166,897,683 (GRCm39) C414R probably damaging Het
Other mutations in Tbx10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Tbx10 APN 19 4,048,227 (GRCm39) missense probably damaging 1.00
IGL01597:Tbx10 APN 19 4,046,736 (GRCm39) missense probably benign 0.00
IGL03294:Tbx10 APN 19 4,048,571 (GRCm39) unclassified probably benign
R0051:Tbx10 UTSW 19 4,046,798 (GRCm39) critical splice donor site probably null
R0105:Tbx10 UTSW 19 4,043,121 (GRCm39) unclassified probably benign
R0626:Tbx10 UTSW 19 4,047,873 (GRCm39) missense probably benign 0.42
R1265:Tbx10 UTSW 19 4,046,625 (GRCm39) missense probably damaging 0.97
R4713:Tbx10 UTSW 19 4,046,921 (GRCm39) missense probably damaging 1.00
R6337:Tbx10 UTSW 19 4,047,312 (GRCm39) nonsense probably null
R7021:Tbx10 UTSW 19 4,048,961 (GRCm39) missense probably benign
R7476:Tbx10 UTSW 19 4,049,034 (GRCm39) missense probably benign 0.00
R7549:Tbx10 UTSW 19 4,046,651 (GRCm39) missense probably benign 0.02
R8768:Tbx10 UTSW 19 4,047,303 (GRCm39) missense probably damaging 1.00
Z1177:Tbx10 UTSW 19 4,048,186 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07